ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.262A>T (p.Ser88Cys)

dbSNP: rs2113750654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Unit, University Of Colombo RCV001823010 SCV001762410 likely pathogenic Hemochromatosis type 1 no assertion criteria provided clinical testing

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